Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy

Author:

López-Nevado MartaORCID,Ortiz-Martín Javier,Serrano Cristina,Pérez-Saez María A.,López-Lorenzo José L.,Gil-Etayo Francisco J.,Rodríguez-Frías Edgar,Cabrera-Marante Oscar,Morales-Pérez Pablo,Rodríguez-Pinilla María S.,Manso Rebeca,Salgado-Sánchez Rocío N.,Cerdá-Montagud Ana,Quesada-Espinosa Juan F.,Gómez-Rodríguez María J.,Paz-Artal Estela,Muñoz-Calleja Cecilia,Arranz-Sáez Reyes,Allende Luis M.

Funder

Instituto de Salud Carlos III

Beckman Coulter Foundation

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Reference73 articles.

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2. Rieux-Laucat F, Le Deist F, Hivroz C, Roberts IAG, Debatin KM, Fischer A, et al. Mutations in fas associated with human lymphoproliferative syndrome and autoimmunity. Science (80- ) [Internet]. 1995 [cited 2020 Sep 22];268(5215):1347–9. Available from: https://pubmed.ncbi.nlm.nih.gov/7539157/.

3. Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. In: Blood [Internet]. Blood; 2010 [cited 2020 Sep 22]. Available from: https://pubmed.ncbi.nlm.nih.gov/20538792/.

4. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol [Internet]. 2020 Jan 1 [cited 2020 Sep 22];40(1):24–64. Available from: https://doi.org/10.1007/s10875-019-00737-x.

5. Casamayor-Polo L, López-Nevado M, Paz-Artal E, Anel A, Rieux-Laucat F, Allende LM. Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS) [Internet]. Critical Reviews in Clinical Laboratory Sciences. Taylor and Francis Ltd.; 2020 [cited 2021 Jan 4]. Available from: https://pubmed.ncbi.nlm.nih.gov/33356695/.

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